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Heritable features of the optic disc: a novel twin method for determining genetic significance


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Hewitt, AW, Garway-Heath, DF, Green, CM, Hammond, CJ, Hayreb, SS, Jonas, JB, Kaufman, PL, Miller, NR, Morgan, WH, Newman, NJ, Quigley, HA, Poulsen, JP, Samples, JR, Spaeth, GL, Pesudovs, K, Mackey, DA, Alward, WLM, Bennett, SL, Budde, WM, Cooper, RL, Craig, JE, Fingert, JH and Foster, PJ 2007 , 'Heritable features of the optic disc: a novel twin method for determining genetic significance' , Investigative Ophthalmology & Visual Science, vol. 48, no. 6 , pp. 2469-2475 , doi: 10.1167/iovs.06-1470.

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PURPOSE. Numerous genetic diseases and environmental stimuli affect optic nerve morphology. The purpose of this study was to identify the principal heritable components of visible optic nerve head structures in a population-based sample of twins.

METHODS. Fifteen optic nerve specialists viewed stereoscopic optic nerve head photographs (Stereo Viewer-II; Pentax Corp., Tokyo, Japan) from 50 randomly selected monozygotic or dizygotic twin pairs. Before viewing, each expert was questioned about which optic nerve head traits they believed were inherited. After viewing a standardized teaching set, the experts indicated which twin pairs they thought were monozygotic. Participants were then questioned about how their decisions were reached. A rank-ordered Rasch analysis was used to determine the relative weighting and value applied to specific optic nerve head traits.

Item Type: Article
Authors/Creators:Hewitt, AW and Garway-Heath, DF and Green, CM and Hammond, CJ and Hayreb, SS and Jonas, JB and Kaufman, PL and Miller, NR and Morgan, WH and Newman, NJ and Quigley, HA and Poulsen, JP and Samples, JR and Spaeth, GL and Pesudovs, K and Mackey, DA and Alward, WLM and Bennett, SL and Budde, WM and Cooper, RL and Craig, JE and Fingert, JH and Foster, PJ
Journal or Publication Title: Investigative Ophthalmology & Visual Science
ISSN: 0146-0404
DOI / ID Number: 10.1167/iovs.06-1470
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